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Article

Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland - 1 Jun 2010

O'Riordan J M, O'Donoghue D, Green A, Keegan D, Hawkes L A, Payne S J, Sheahan K, Winter D C

Abstract excerpt

The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not...

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Share to Adenomatous Polyposis Coli
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19438883
DOI: 10.1111/j.1463-1318.2009.01931.x

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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